Genetic testing & personalization: 23andMe works it way back with new premarket notification

By Stephen DANIELLSStephen DANIELLS27-Jun-20142014-06-27T00:00:00ZLast updated on 27-Jun-2014 at 15:28 GMT2014-06-27T15:28:54Z

The US Food and Drug agency has accepted for review a premarket notification report from 23andMe, seven months after its genetic testing operations were shut down by the FDA.

With personalization seen as one of the ultimate goals of nutrition many in the dietary supplement and functional foods business have been watching the progress of companies like 23andMe: Once an individual knows his or her genetic predisposition to chronic diseases, goes the thinking, he or she can adjust their diet and lifestyle to mitigate some or much of the risk.

23andMe began offering its DNA tests in November 2007 to allow genetic testing for consumers via a simple saliva sample. Uptake for its $99 packets was rapid until FDA shut the operation down, at least temporarily. The Agency asserted that the test should be properly classified as a medical device, and also questioned the accuracy of the test results. (23andMe continued to offer an ancestry product without any disease risk information.)

“These concerns were hardly theoretical ones,” wrote Jeffrey Shuren, MD, JD, director of FDA’s Center for Devices and Radiological Health in a blog. “In 2010, at the behest of Congress, investigators from the U.S. Government Accountability Office purchased direct-to-consumer (DTC) genetic tests from four different companies – including 23andMe – and submitted two samples of their DNA to each company to receive risk predictions for 15 common diseases. The results varied across the four companies. One investigator was told that he was at below-average, average, and above-average risk for prostate cancer and hypertension. In some cases, the risk predictions conflicted with an investigator’s actual medical condition.”

Establishing a parameter for future submissions

The FDA recently accepted for review a new 510 (k) application from 23andMe for a single inherited condition – the rare but serious Bloom syndrome. The submission is “an important step in our work with the FDA in the coming months”, wrote Kathy Hibbs, chief legal and regulatory officer of 23andMe, in a blog post.

“Once cleared, it will help 23andMe, and the FDA, establish the parameters for future submissions,” said Hibbs. “More importantly, for our customers, it marks a baseline on the accuracy and validity of the information we report back to them. The submission includes robust validation data covering major components of our product such as the genotyping chip, software and saliva kit.

“While we are still in the very early stages of this regulatory review process, we remain committed to transparency and keeping our customers as informed as possible […] We are pleased to be moving forward with the FDA and committed to our company mission of empowering individuals with their genetic information.”

Dr Shuren wrote that the Agency understands that people have an interest in accessing and understanding their genetic data, but only if that information is accurate and the results are correct.

“FDA is not standing in the way of 23andMe selling tests intended to help consumers trace their ancestry, identify relatives and tell them why they like or don’t like the taste of cilantro. Yes, that information can be fun,” he wrote. “But Alzheimer’s disease, cancer and heart disease are serious matters. Our concern remains that genetic tests for diseases, just like other tests for medical conditions, such as hemoglobin A1C for diabetes (glucose control) should be accurate. Armed with that accurate information, consumers can take appropriate steps to take charge of their health.